gabpa[All Fields] AND 1[has_clinical] - dbVar

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Number of Variants: 20

Variant Region ID	Type	Number of Variant Calls	Study ID	Organism	Clinical Assertion	Location	Genes in region
nsv4457441	copy number variation	1	nstd102	human	Uncertain significance	GRCh37 chr21: 27,059,436-27,125,064 , GRCh38.p12 chr21: 25,687,124-25,752,753	GABPA, FDX1P2, 2 more genes
nsv4457572	copy number variation	1	nstd102	human	Uncertain significance	GRCh37 chr21: 27,061,160-27,125,064 , GRCh38.p12 chr21: 25,688,848-25,752,753	GABPA, ATP5PF, 2 more genes
nsv3908183	copy number variation	1	nstd102	human	Uncertain significance	GRCh37 chr21: 27,081,748-27,142,633 , GRCh38.p12 chr21: 25,709,436-25,770,322	GABPA, JAM2, 2 more genes
nsv3923176	copy number variation	1	nstd102	human	Pathogenic	GRCh38 chr21: 7,817,158-46,670,440 , NCBI36 chr21: 14,406,909-46,914,780 , GRCh37 chr21: 15,485,038-48,090,352	GABPA, COL18A1-AS2, 682 more genes
nsv3905423	copy number variation	1	nstd102	human	Pathogenic	GRCh37 chr21: 15,538,655-48,080,926 , GRCh38.p12 chr21: 14,166,334-46,661,014	GABPA, MTND5P1, 581 more genes
nsv3917693	copy number variation	1	nstd102	human	Pathogenic	GRCh38 chr21: 7,749,532-37,653,653 , GRCh37 chr21: 15,451,032-39,025,955 , NCBI36 chr21: 14,372,903-37,947,825	GABPA, DPRXP5, 448 more genes
nsv3922838	copy number variation	1	nstd102	human	Pathogenic	GRCh38 chr21: 10,366,915-27,611,416 , GRCh37.p13 chr21: 14,338,130-28,983,735	GABPA, RN7SL163P, 178 more genes
nsv3916181	copy number variation	1	nstd102	human	Pathogenic	GRCh38 chr21: 14,000,720-30,903,065 , GRCh37 chr21: 15,373,041-32,275,384 , NCBI36 chr21: 14,294,912-31,197,255	GABPA, ADAMTS5, 215 more genes
nsv3920431	copy number variation	1	nstd102	human	Pathogenic	NCBI36 chr21: 13,488,537-29,551,400 , GRCh37 chr21: 14,566,666-30,629,529 , GRCh38 chr21: 13,194,345-29,257,208	GABPA, ZNF114P1, 189 more genes
nsv4676306	copy number variation	1	nstd102	human	Pathogenic	GRCh37 chr21: 15,006,457-29,325,923 , GRCh38.p12 chr21: 13,634,136-27,953,605	GABPA, JAM2, 161 more genes
nsv3921072	copy number variation	1	nstd102	human	Pathogenic	GRCh37 chr21: 15,006,458-29,235,160 , GRCh38 chr21: 13,634,137-27,862,841 , NCBI36 chr21: 13,928,329-28,157,031	GABPA, CYYR1-AS1, 161 more genes
nsv3909006	copy number variation	1	nstd102	human	Pathogenic	GRCh37 chr21: 15,006,457-29,225,300 , GRCh38.p12 chr21: 13,634,136-27,852,981	GABPA, LOC105372738, 161 more genes
nsv3917277	copy number variation	1	nstd102	human	Pathogenic	GRCh38 chr21: 13,974,874-27,814,120 , GRCh37.p13 chr21: 15,347,195-29,186,439	GABPA, SREK1IP1P1, 141 more genes
nsv3915265	copy number variation	1	nstd102	human	Pathogenic	NCBI36 chr21: 19,717,357-32,135,333 , GRCh37 chr21: 20,795,486-33,213,462 , GRCh38 chr21: 19,423,169-31,841,150	GABPA, TUBAP1, 169 more genes
nsv3923006	copy number variation	1	nstd102	human	Pathogenic	GRCh38 chr21: 21,730,831-32,385,468 , GRCh37.p13 chr21: 23,103,151-33,757,777	GABPA, KRTAP23-1, 161 more genes
nsv7096278	copy number variation	1	nstd102	human	Pathogenic	GRCh38.p12 chr21: 25,741,599-26,170,620 , GRCh37 chr21: 27,113,910-27,542,938	GABPA, APP, 4 more genes
nsv3914461	copy number variation	1	nstd102	human	Pathogenic	GRCh38 chr21: 7,749,532-46,698,247 , GRCh37 chr21: 14,577,835-48,118,159 , NCBI36 chr21: 13,499,706-46,942,587	GABPA, LINC00945, 686 more genes
nsv3916732	copy number variation	4	nstd102	human	Uncertain significance, Pathogenic	GRCh38 chr21: 7,749,532-46,677,460 , GRCh37 chr21: 15,006,458-48,097,372 , NCBI36 chr21: 13,928,329-46,921,800	GABPA, MIR6724-4, 685 more genes
nsv3917878	copy number variation	4	nstd102	human	Pathogenic	NCBI36 chr21: 14,372,903-46,915,400 , GRCh38 chr21: 7,749,532-46,671,060 , GRCh37 chr21: 15,451,032-48,090,972	GABPA, POLR2CP1, 685 more genes
nsv3921828	copy number variation	2	nstd102	human	Pathogenic	NCBI36 chr21: 14,435,115-46,914,780 , GRCh38 chr21: 7,749,532-46,670,440 , GRCh37 chr21: 15,513,244-48,090,352	GABPA, U2AF1, 685 more genes

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Number of Variants: 20

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dbVar

Result Filters

Object Type

Organism

Variant Type

Method Type

Clinical Interpretation

Has Clinical Interpretation

Sex of Subject

Origin

Study Type

Subject Phenotype Status

Additional filters

Search results

Items: 1 to 20 of 53

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Number of Variants: 20

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Supplemental Content

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